SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
Four members of a family had the heriditary syndrome of dominantly inherited progressive optic atrophy and congenital sensorineural deafness. Hearing evaluations revealed that two members had a potentially treatable form of deafness.
We studied the clinical and microscopic appearances of the optic nerve head in squirrel monkeys with optic nerve degeneration produced by optic nerve transection at the orbital apex. The ophthalmoscopic development of optic disk pallor coincided with the loss of nerve fiber bundles and the rearrangement of the remaining disk astrocytes into dense parallel layers across the nerve head. No astrocytic mitoses were observed and the estimated volume of astrocytes increased only slightly from normal. Among the astrocytes in atrophic disks, many capillaries had patent lumens and ultrastructurally normal endothelial cells. Pallor of the optic disk seems to result from a decrease in the transmission of light into the cytoarchitecture of the atrophic nerve head, not from the absence of capillaries or from extensive astrocytic proliferation.
We report two male cousins with short stature, microcephaly, hypertelorism, optic atrophy, ptosis, absent ear lobes, high-arched palates, abnormal EEG, and severe mental retardation. Both cousins have consanguineous parents. Differential diagnoses are discussed and the possibility that we might be reporting on a new syndrome is raised.
Explore the source record for details and available documents.
A 15-year-old boy presenting with epilepsy, optic atrophy and intracranial calcifications was diagnosed as having metaphyseal dysplasia by bone X-ray examinations. The patient had no laboratory data suggesting other metabolic or endocrinologic disorders. In addition, CT scans showed unique intracranial calcifications of the corpus callosum and periventricular and subcortical white matter, which were distinct from those of previously reported disorders. This case may represent a unique subset or a new type of metaphyseal dysplasia associated with intracranial calcifications and central nervous system symptoms.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
A case of Behr's disease (complicated optic atrophy) associated with epilepsy and with imbalance of the free amino acid pool in plasma and cerebrospinal fluid, quite similar to that identified in patients with hereditary ataxias, is reported. The latter finding stands for a closer correlation between the two clinical entities.
A case is presented of permanent visual loss and optic atrophy following irrigation of the lower canaliculus after probing, with a 20% solution of chloramphenicol. A false passage had apparently been created allowing the solution to gain access to the orbital tissues. The ensuing orbital edema probably caused a central retinal artery occlusion. This is a previously unreported complication of a common ophthalmologic procedure.
PURPOSE: To investigate the radiologic characteristics of the clinical progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) symptom complex. This complex is nonspecific, but within this syndrome, a subgroup with a defined neuropathologic phenotype and apparently autosomal recessive inheritance exists. METHODS: Brain CT or MR studies were performed on 21 patients with the clinical PEHO syndrome. Their previous neuroradiologic studies were re-evaluated. RESULTS: Twelve patients (group A) showed uniform changes with early progressive brain atrophy accentuated infratentorially, and abnormal myelination. The gyral pattern was normal. Brain atrophy of nine patients (group B) differed by being less progressive, supra- rather than infratentorial, and often combined with abnormal gyral formation. CONCLUSIONS: Postmortem studies permitted correlation of radiographic and morphologic findings in three cases. Two autopsied group A patients were compatible with the true PEHO syndrome, while one group B patient was incompatible. Group A seems to correspond to the core group of the PEHO syndrome. During a patient's life, a suggestive diagnosis of the true PEHO syndrome is thus feasible, although neuropathologic studies are needed for a conclusive diagnosis.
The purpose of the trial was to investigate efficacy of cerebrolysin in children with partial optic atrophy and to compare different ways of injections of the drug. Cerebrolysin was injected in retrobulbar space and in Tenon's space. The drug was given separately and in combination with trental. Favorable effect has been achieved in all the patients treated with cerebrolysin injections in Tenon's space. In patients treated with retrobulbar injections of cerebrolysin and with injections of cerebrolysin and trental improvement occurred in 50% of cases. In control group, who did not receive cerebrolysin favorable results were achieved in 25% of patients. A 12-month follow-up study stated stability of the effect of cerebrolysin.
Bilateral blindness resulting from optic atrophy is an unusual complication following shock and cardio-respiratory arrest. This report describes a patient with acute respiratory failure due to pneumococcal pneumonia being treated with very high levels of positive end expiratory pressure who developed bilateral blindness following cardiac arrest. This unfortunate complication most likely resulted from increased intraocular pressure and low systemic perfusion pressure synergistically causing ischemia of the optic nerves.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
An acquired tritan defect is the earliest and the most pathognomonic sign of dominant infantile optic atrophy (DIOA) and the Tritan Album of Lanthony (1985) is helpful for the diagnosis of this condition. In preschool children, diagnosis of DIOA is possible by modifications of this test, using one plate under standard illumination which can be rotated into four positions, and by measuring the maximum distance of recognition of the plate.